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The prognostic effects of somatic mutations in ER-positive breast cancer
Here we report targeted sequencing of 83 genes using DNA from primary breast cancer samples from 625 postmenopausal (UBC-TAM series) and 328 premenopausal (MA12 trial) hormone receptor-positive (HR+) patients to determine interactions between somatic mutation and prognosis. Independent validation of...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123466/ https://www.ncbi.nlm.nih.gov/pubmed/30181556 http://dx.doi.org/10.1038/s41467-018-05914-x |
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| author | Griffith, Obi L. Spies, Nicholas C. Anurag, Meenakshi Griffith, Malachi Luo, Jingqin Tu, Dongsheng Yeo, Belinda Kunisaki, Jason Miller, Christopher A Krysiak, Kilannin Hundal, Jasreet Ainscough, Benjamin J Skidmore, Zachary L. Campbell, Katie Kumar, Runjun Fronick, Catrina Cook, Lisa Snider, Jacqueline E. Davies, Sherri Kavuri, Shyam M. Chang, Eric C. Magrini, Vincent Larson, David E. Fulton, Robert S Liu, Shuzhen Leung, Samuel Voduc, David Bose, Ron Dowsett, Mitch Wilson, Richard K. Nielsen, Torsten O. Mardis, Elaine R Ellis, Matthew J. |
| author_facet | Griffith, Obi L. Spies, Nicholas C. Anurag, Meenakshi Griffith, Malachi Luo, Jingqin Tu, Dongsheng Yeo, Belinda Kunisaki, Jason Miller, Christopher A Krysiak, Kilannin Hundal, Jasreet Ainscough, Benjamin J Skidmore, Zachary L. Campbell, Katie Kumar, Runjun Fronick, Catrina Cook, Lisa Snider, Jacqueline E. Davies, Sherri Kavuri, Shyam M. Chang, Eric C. Magrini, Vincent Larson, David E. Fulton, Robert S Liu, Shuzhen Leung, Samuel Voduc, David Bose, Ron Dowsett, Mitch Wilson, Richard K. Nielsen, Torsten O. Mardis, Elaine R Ellis, Matthew J. |
| author_sort | Griffith, Obi L. |
| collection | PubMed |
| description | Here we report targeted sequencing of 83 genes using DNA from primary breast cancer samples from 625 postmenopausal (UBC-TAM series) and 328 premenopausal (MA12 trial) hormone receptor-positive (HR+) patients to determine interactions between somatic mutation and prognosis. Independent validation of prognostic interactions was achieved using data from the METABRIC study. Previously established associations between MAP3K1 and PIK3CA mutations with luminal A status/favorable prognosis and TP53 mutations with Luminal B/non-luminal tumors/poor prognosis were observed, validating the methodological approach. In UBC-TAM, NF1 frame-shift nonsense (FS/NS) mutations were also a poor outcome driver that was validated in METABRIC. For MA12, poor outcome associated with PIK3R1 mutation was also reproducible. DDR1 mutations were strongly associated with poor prognosis in UBC-TAM despite stringent false discovery correction (q = 0.0003). In conclusion, uncommon recurrent somatic mutations should be further explored to create a more complete explanation of the highly variable outcomes that typifies ER+ breast cancer. |
| format | Online Article Text |
| id | pubmed-6123466 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2018 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-61234662018-09-06 The prognostic effects of somatic mutations in ER-positive breast cancer Griffith, Obi L. Spies, Nicholas C. Anurag, Meenakshi Griffith, Malachi Luo, Jingqin Tu, Dongsheng Yeo, Belinda Kunisaki, Jason Miller, Christopher A Krysiak, Kilannin Hundal, Jasreet Ainscough, Benjamin J Skidmore, Zachary L. Campbell, Katie Kumar, Runjun Fronick, Catrina Cook, Lisa Snider, Jacqueline E. Davies, Sherri Kavuri, Shyam M. Chang, Eric C. Magrini, Vincent Larson, David E. Fulton, Robert S Liu, Shuzhen Leung, Samuel Voduc, David Bose, Ron Dowsett, Mitch Wilson, Richard K. Nielsen, Torsten O. Mardis, Elaine R Ellis, Matthew J. Nat Commun Article Here we report targeted sequencing of 83 genes using DNA from primary breast cancer samples from 625 postmenopausal (UBC-TAM series) and 328 premenopausal (MA12 trial) hormone receptor-positive (HR+) patients to determine interactions between somatic mutation and prognosis. Independent validation of prognostic interactions was achieved using data from the METABRIC study. Previously established associations between MAP3K1 and PIK3CA mutations with luminal A status/favorable prognosis and TP53 mutations with Luminal B/non-luminal tumors/poor prognosis were observed, validating the methodological approach. In UBC-TAM, NF1 frame-shift nonsense (FS/NS) mutations were also a poor outcome driver that was validated in METABRIC. For MA12, poor outcome associated with PIK3R1 mutation was also reproducible. DDR1 mutations were strongly associated with poor prognosis in UBC-TAM despite stringent false discovery correction (q = 0.0003). In conclusion, uncommon recurrent somatic mutations should be further explored to create a more complete explanation of the highly variable outcomes that typifies ER+ breast cancer. Nature Publishing Group UK 2018-09-04 /pmc/articles/PMC6123466/ /pubmed/30181556 http://dx.doi.org/10.1038/s41467-018-05914-x Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
| spellingShingle | Article Griffith, Obi L. Spies, Nicholas C. Anurag, Meenakshi Griffith, Malachi Luo, Jingqin Tu, Dongsheng Yeo, Belinda Kunisaki, Jason Miller, Christopher A Krysiak, Kilannin Hundal, Jasreet Ainscough, Benjamin J Skidmore, Zachary L. Campbell, Katie Kumar, Runjun Fronick, Catrina Cook, Lisa Snider, Jacqueline E. Davies, Sherri Kavuri, Shyam M. Chang, Eric C. Magrini, Vincent Larson, David E. Fulton, Robert S Liu, Shuzhen Leung, Samuel Voduc, David Bose, Ron Dowsett, Mitch Wilson, Richard K. Nielsen, Torsten O. Mardis, Elaine R Ellis, Matthew J. The prognostic effects of somatic mutations in ER-positive breast cancer |
| title | The prognostic effects of somatic mutations in ER-positive breast cancer |
| title_full | The prognostic effects of somatic mutations in ER-positive breast cancer |
| title_fullStr | The prognostic effects of somatic mutations in ER-positive breast cancer |
| title_full_unstemmed | The prognostic effects of somatic mutations in ER-positive breast cancer |
| title_short | The prognostic effects of somatic mutations in ER-positive breast cancer |
| title_sort | prognostic effects of somatic mutations in er-positive breast cancer |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123466/ https://www.ncbi.nlm.nih.gov/pubmed/30181556 http://dx.doi.org/10.1038/s41467-018-05914-x |
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